Linked Data
ClinVar Variation Id:
2802941
ClinVar RCV Id:
RCV003679246
dbSNP Id:
rs1421604716
gnomAD v3:
6-157201366-A-C
gnomAD v4:
6-157201366-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201366A>C , CM000668.2:g.157201366A>C | GRCh38 |
| NC_000006.11:g.157522500A>C , CM000668.1:g.157522500A>C | GRCh37 |
| NC_000006.10:g.157564192A>C | NCBI36 |
| NG_032093.1:g.428437A>C | |
| NG_032093.2:g.428437A>C | |
| NG_066624.1:g.430341A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4982A>C | ENSP00000055163.8:p.Gln1661Pro | |
| ENST00000414678.8:c.5051A>C | ENSP00000412835.3:p.Gln1684Pro | |
| ENST00000637015.2:c.5270A>C | ENSP00000489729.2:p.Gln1757Pro | |
| ENST00000346085.10:c.5021A>C | ENSP00000344546.5:p.Gln1674Pro | |
| ENST00000350026.10:c.4733A>C | ENSP00000055163.7:p.Gln1578Pro | |
| ENST00000414678.7:c.3299A>C | ENSP00000412835.2:p.Gln1100Pro | |
| ENST00000635849.1:c.2462A>C | ENSP00000490948.1:p.Gln821Pro | |
| ENST00000635957.1:c.2093A>C | ENSP00000490385.1:p.Gln698Pro | |
| ENST00000636227.1:n.3604A>C | ||
| ENST00000636254.1:n.1061A>C | ||
| ENST00000636930.2:c.5141A>C MANE Select | ENSP00000490491.2:p.Gln1714Pro | |
| ENST00000636940.1:n.3138A>C | ||
| ENST00000637015.1:c.2509A>C | ||
| ENST00000637568.1:c.2423A>C | ||
| ENST00000637741.1:n.1807A>C | ||
| ENST00000637810.1:c.2483A>C | ENSP00000489636.1:p.Gln828Pro | |
| ENST00000637904.1:c.2642A>C | ENSP00000490550.1:p.Gln881Pro | |
| ENST00000647938.1:c.4772A>C | ENSP00000498155.1:p.Gln1591Pro | |
| ENST00000346085.9:c.4772A>C | ENSP00000344546.4:p.Gln1591Pro | |
| ENST00000350026.9:c.4733A>C | ENSP00000055163.7:p.Gln1578Pro | |
| ENST00000414678.6:c.3299A>C | ENSP00000412835.2:p.Gln1100Pro | |
| NM_017519.2:c.4733A>C | NP_059989.2:p.Gln1578Pro | |
| NM_020732.3:c.4772A>C | NP_065783.3:p.Gln1591Pro | |
| XM_005267069.3:c.4892A>C | XP_005267126.2:p.Gln1631Pro | |
| XM_011535984.1:c.3971A>C | XP_011534286.1:p.Gln1324Pro | |
| XM_011535985.1:c.3791A>C | XP_011534287.1:p.Gln1264Pro | |
| XM_011535986.1:c.3551A>C | XP_011534288.1:p.Gln1184Pro | |
| XM_011535987.1:c.3170A>C | XP_011534289.1:p.Gln1057Pro | |
| XM_011535988.1:c.2033A>C | XP_011534290.1:p.Gln678Pro | |
| NM_001346813.1:c.4892A>C | NP_001333742.1:p.Gln1631Pro | |
| NM_001363725.1:c.2642A>C | NP_001350654.1:p.Gln881Pro | |
| XM_011535984.2:c.5102A>C | XP_011534286.2:p.Gln1701Pro | |
| XM_011535988.3:c.2033A>C | XP_011534290.1:p.Gln678Pro | |
| XM_017011103.2:c.5003A>C | XP_016866592.1:p.Gln1668Pro | |
| XM_017011104.1:c.4973A>C | XP_016866593.1:p.Gln1658Pro | |
| XM_017011105.2:c.4943A>C | XP_016866594.1:p.Gln1648Pro | |
| XM_017011106.2:c.4814A>C | XP_016866595.1:p.Gln1605Pro | |
| XM_017011107.2:c.4793A>C | XP_016866596.1:p.Gln1598Pro | |
| XR_002956289.1:n.5088A>C | ||
| NM_001363725.2:c.2642A>C | NP_001350654.1:p.Gln881Pro | |
| NM_001371656.1:c.5021A>C | NP_001358585.1:p.Gln1674Pro | |
| NM_001374820.1:c.5021A>C | NP_001361749.1:p.Gln1674Pro | |
| NM_001374828.1:c.5141A>C MANE Select | NP_001361757.1:p.Gln1714Pro | |
| NM_017519.3:c.4982A>C | NP_059989.3:p.Gln1661Pro |